Evolution of stickleback spines through independent cis-regulatory changes at HOXDB.
Evolution of stickleback spines through independent cis-regulatory changes at HOXDB.
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DOI：
10.1038/s41559-022-01855-3
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发表时间：
2022-10
影响因子：
16.8
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中科院分区：
文献类型：
--
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了解导致生物体产生新特征或附加特征的机制是进化生物学的一个基本目标。我们发现，HOXDB的调控变化在不同的鱼类属中被反复使用，以改变棘鱼物种分类中突出背刺的长度和数量。在棘鱼（典型的“三棘棘鱼”）中，HOXDB等位基因的变异与缩短现有脊柱并增加额外脊柱的基因有关。在Apeltes quadracus（典型的“四棘棘鱼”）中，一个变异的HOXDB等位基因与自然种群中脊柱的延长和增加额外的脊柱有关。变异等位基因改变HOXDB基因座上相同的非编码增强子区域，但通过不同的机制，包括单核苷酸多态性、缺失和转座元件插入。这种独立的调控变化与HOXDB表达的前向扩张或收缩有关。我们认为，脊柱长度和数量的相关变化是鱼类形成主要防御结构的重复骨骼系列的部分身份转换。我们的研究结果支持了长期存在的假设，即自然Hox基因变异是野生种群关键模式变化的基础，并说明了影响同一区域的不同突变机制如何产生相反的基因表达变化和相似的表型结果。HOXDB基因座非编码增强子区域的差异是棘鱼物种背脊长度和数量差异的基础。这些差异包括单核苷酸多态性、缺失和转座元件插入。
Understanding the mechanisms leading to new traits or additional features in organisms is a fundamental goal of evolutionary biology. We show that HOXDB regulatory changes have been used repeatedly in different fish genera to alter the length and number of the prominent dorsal spines used to classify stickleback species. In Gasterosteus aculeatus (typically ‘three-spine sticklebacks’), a variant HOXDB allele is genetically linked to shortening an existing spine and adding an additional spine. In Apeltes quadracus (typically ‘four-spine sticklebacks’), a variant HOXDB allele is associated with lengthening a spine and adding an additional spine in natural populations. The variant alleles alter the same non-coding enhancer region in the HOXDB locus but do so by diverse mechanisms, including single-nucleotide polymorphisms, deletions and transposable element insertions. The independent regulatory changes are linked to anterior expansion or contraction of HOXDB expression. We propose that associated changes in spine lengths and numbers are partial identity transformations in a repeating skeletal series that forms major defensive structures in fish. Our findings support the long-standing hypothesis that natural Hox gene variation underlies key patterning changes in wild populations and illustrate how different mutational mechanisms affecting the same region may produce opposite gene expression changes with similar phenotypic outcomes. Differences in a non-coding enhancer region of the HOXDB locus underlie the differences between stickleback species in dorsal spine length and number. These differences include single-nucleotide polymorphisms, deletions and transposable element insertions.
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